Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad neck
Always present (100%)HP:0000475
Aplasia/Hypoplasia of the nipples
Very frequent (80-99%)HP:0006709
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Diaphragmatic hernia
Very frequent (80-99%)HP:0000776
High arched palate
Very frequent (80-99%)HP:0000218
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Multicystic kidney dysplasia
Very frequent (80-99%)HP:0000003
Poorly developed lungs
Very frequent (80-99%)HP:0002089
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Severe psychomotor retardation
Very frequent (80-99%)HP:0011344
Small fingernail
Very frequent (80-99%)HP:0001804
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Cleft of palate
Frequent (30-79%)HP:0000175
Coarse face
Frequent (30-79%)HP:0000280
Corneal opacity
Frequent (30-79%)HP:0007957
Cryptorchidism
Frequent (30-79%)HP:0000028
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Distal phalangeal hypoplasia
Frequent (30-79%)HP:0009882
Epilepsy
Frequent (30-79%)HP:0001250
Heart septal defect
Frequent (30-79%)HP:0001671
Hydramnios
Frequent (30-79%)HP:0001561
Increased distance between eyes
Frequent (30-79%)HP:0000316
Large mouth
Frequent (30-79%)HP:0000154
Midline cleft lip
Frequent (30-79%)HP:0000161
Non-midline cleft of the upper lip
Frequent (30-79%)HP:0100335
Nostrils anteverted
Frequent (30-79%)HP:0000463
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Related Conditions
Congenital hypoplasia of lung(parent)
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Congenital diaphragmatic hernia(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Developmental hereditary disorder(parent)
Congenital hypoplasia of extremity(parent)
Quick Facts
- SNOMED CT
- 702432006
- UMLS CUI
- C0220730
- Fully Specified Name
- Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.